OBO ID: DOID:0060849 |
Term Name: | osteoporosis-pseudoglioma syndrome | Search Ontology: | |
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Definition: | A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13. (3) | ||
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Ontology: | Human Disease ( DOID:0060849 ) |
OTHER osteoporosis-pseudoglioma syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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